1. A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for
- Author
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Charles J, Arends, Lane H, Wilson, Ana, Estrella, Oh Sung, Kwon, David A, Weinstein, and Young Mok, Lee
- Subjects
Blood Glucose ,Disease Models, Animal ,Mice ,Liver ,Phosphorylase Kinase ,Glycogenolysis ,Animals ,Glycogen Storage Disease - Abstract
Glycogen storage disease type IX (GSD-IX) constitutes nearly a quarter of all GSDs. This ketotic form of GSD is caused by mutations in phosphorylase kinase (PhK), which is composed of four subunits (α, β, γ, δ). PhK is required for the activation of the liver isoform of glycogen phosphorylase (PYGL), which generates free glucose-1-phosphate monomers to be used as energy via cleavage of the α -(1,4) glycosidic linkages in glycogen chains. Mutations in any of the PhK subunits can negatively affect the regulatory and catalytic activity of PhK during glycogenolysis. To understand the pathogenesis of GSD-IX-beta, we characterized a newly created PHKB knockout (
- Published
- 2022